Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Cytogenetic / Clinical Entities

Table of Content

1. Chronic Myeloproliferative Diseases (MPD)

2. Myelodysplastic Syndromes (MDS)

3. Treatment Related Leukaemias (t-AML)

4. Acute Myeloid Leukaemias (AML)

5. B-Cell Acute Lymphocytic Leukaemias (B-ALL)

6. T-Cell Acute Lymphocytic Leukaemias (T-ALL)

7. Non Hodgkin Lymphomas and Chronic Lymphoproliferative Diseases (NHL and CLD)

Classification of B-cell non-Hodgkin's lymphomas (NHL)
Classification of B-cell chronic lymphoproliferative disorders (CLD)
t(10;11)(q22;q23) KMT2A/TET1
t(10;14)(q24;q32) (B-NHL; NFKB2 and IGH; rare)
Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
t(11;14)(q13;q32) IGH/CCND1
t(11;14)(q13;q32) IGH/CCND1
t(11;14)(q13;q32) IGH/CCND1 in multiple myeloma
t(11;18)(q21;q21) BIRC3/MALT1
t(11;19)(q13;p13) FSTL3/CCND1
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
t(1;14)(q21;q32) BCL9/IGH
t(1;22)(q21;q11) IGL/BCL9
der(1;14)(p10 or q10;p10 or q10)
der(1;14)(p10 or q10;p10 or q10)
t(1;14)(q21;q32) FCGR2B/IGH
t(1;14)(q21;q32) FCRL4/IGH
t(1;14)(q21;q32) FCRL4/IGH
t(1;14)(q21;q32) MUC1/IGH
t(1;14)(q23;q32) (ALL, NHL, CLD; ---; rare)
t(1;14)(q23;q32) (ALL, NHL, CLD; ---; rare)
t(1;14)(p22;q32) IGH/BCL10
t(1;2)(p22;p12) IGK/BCL10
t(1;19)(q23;p13) TCF3/PBX1
del(11q) in non-Hodgkin's lymphoma (NHL)
1q rearrangements in multiple myeloma
12p rearrangements in CLL
12p rearrangements in CLL
t(1;2)(q25;p23) TPM3/ALK
+12 or trisomy 12
+12 or trisomy 12
t(13;19)(q14;p13) TCF3/?
del(13q) in chronic lymphoproliferative diseases
del (13q)
del (13q)
del(13q) in multiple myeloma
del(13q) in non-Hodgkin's lymphoma
t(1;3)(p36;q21) PSMD2/PRDM16
t(1;3)(q25;q27) GAS5/BCL6
t(14;15)(q32;q11) IGH/NBEAP1
t(14;18)(q32;q21) IGH/MALT1
t(14;22)(q32;q11) IGH/IGL
t(14;22)(q32;q11) IGH/IGL
15q13-15 Rearrangements
+15 or trisomy 15 (as sole autosomal abnormality)
t(1;6)(p35;p25) ?/IRF4
+16 or trisomy 16 (solely)
del(17p) in non-Hodgkin's lymphoma (NHL)
+18 or trisomy 18 in lymphoproliferative disorders
+18 or trisomy 18 in lymphoproliferative disorders
inv(19)(p13q13) TCF3/TFPT
t(19;19)(p13;q13) TCF3/TFPT
der(1)t(1;1)(p36;q11-q32) in hematopoietic malignancies
t(1;1)(p36;q21) in Non Hodgkin Lymphoma
1q triplication in hematologic malignancies
1q triplication in hematologic malignancies
+20 or trisomy 20 (solely)
+20 or trisomy 20 (solely)
t(12;14)(p13;q32) IGH/CCND2
t(12;22)(p13;q11) IGL/CCND2
t(2;12)(p12;p13) IGK/CCND2
t(2;12)(q31;p13) ETV6/?
t(14;18)(q32;q21) IGH/BCL2
t(14;18)(q32;q21) IGH/BCL2
t(18;22)(q21;q11) IGL/BCL2
t(18;22)(q21;q11) IGL/BCL2
t(2;18)(p11;q21) IGK/BCL2
t(2;18)(p11;q21) IGK/BCL2
t(14;19)(q32;q13) IGH/BCL3
t(14;19)(q32;q13) IGH/BCL3
t(19;22)(q13;q11) BCL3/IGL
t(19;22)(q13;q11) BCL3/IGL
t(2;19)(p12;q13) IGK/BCL3
t(2;19)(p12;q13) IGK/BCL3
t(2;14)(p13-16;q32) IGH/BCL11A
t(2;14)(p13-16;q32) IGH/BCL11A
t(2;17)(p23;q23) CLTC/ALK
t(2;17)(p23;q25) RNF213/ALK
t(2;18)(q11;q21) AFF3/BCL2
t(2;19)(p23;p13) TPM4/ALK
-21 or monosomy 21 (solely)
t(2;22)(p13;q11) (NHL; REL and IgL; rare)
t(2;22)(p23;q11) CLTCL1/ALK
t(2;22)(p23;q11) MYH9/ALK
t(2;3)(p12;q27) IGK/BCL6
t(3;14)(q27;q32) IGH/BCL6
t(3;22)(q27;q11) IGL/BCL6
t(2;3)(p23;q21) TFG/ALK
t(2;5)(p23;q35) NPM1/ALK
t(2;5)(p23;q35) SQSTM1/ALK
t(2;6)(p12;p25) IRF4/IGK
t(2;6)(p12;p25) IRF4/IGK
t(6;14)(p25;q32) IRF4/IGH
t(6;14)(p25;q32) IRF4/IGH
t(6;22)(p25;q11) IRF4/IGL
t(6;22)(p25;q11) IRF4/IGL
t(2;7)(p11;q21) IGK/CDK6
t(7;14)(q21;q32) IGH/CDK6
t(7;22)(q21;q11) IGL/CDK6
t(2;8)(p12;q24) IGK/MYC
t(8;14)(q24;q32) IGH/MYC
t(8;22)(q24;q11) IGL/MYC
t(2;8)(p15;q24) BCL11A/MYC
t(2;9)(p23;q33) TRAF1/ALK
inv(2)(p23q35) ATIC/ALK
t(3;11)(q27;q23) POU2AF1/BCL6
t(3;12)(q27;p12) LRMP/BCL6
t(3;12)(q27;p13) GAPDH/BCL6
t(3;12)(q27;q23) (NHL; BCL6 and NACA; rare)
t(3;13)(q27;q14) LCP1/BCL6
t(3;14)(p14;q32) IGH/FOXP1
t(3;16)(q27;p11) IL21R/BCL6
t(3;16)(q27;p13) CIITA/BCL6
t(3;19)(q27;q13) NAPA/BCL6
3q27 rearrangements (BCL6) in non Hodgkin lymphoma
t(3;Var)(q27;Var) in non Hodgkin lymphoma
t(3;4)(q27;p13) RHOH/BCL6
t(3;6)(q27;p21) SRSF3/BCL6
t(3;6)(q27;p21) PIM1/BCL6
t(3;6)(q27;p22) HIST1H4I/BCL6
t(3;6)(q27;q14) SNHG5/BCL6
t(3;6)(q27;q15) ?/BCL6
t(3;7)(q27;p12) IKZF1/BCL6
t(3;7)(q27;q32) MIR29A/BCL6
t(3;7)(q27;q32) FRA7H/BCL6
t(3;8)(q27;q24) BCL6/MYC
Polyclonal B Lymphocytosis with Binucleated Lymphocytes (PPBL)
t(3;9)(q26;p23) ?/MECOM
t(3;9)(q27;p13) GRHPR/BCL6
t(3;9)(q27;p24) DMRT1/BCL6
t(3;3)(q25;q27) MBNL1/BCL6
del(3)(q27q27) ST6GAL1/BCL6
t(3;3)(q27;q27) ST6GAL1/BCL6
t(3;3)(q27;q28) EIF4A2/BCL6
t(3;3)(q27;q29) TFRC/BCL6
+3 or trisomy 3 in non Hodgkin's lymphoma (NHL)
t(4;12)(p16;p13) ETV6/FGFR3
t(4;14)(p16;q32) IGH/FGFR3 and WHSC1
t(4;16)(q26;p13) IL2/TNFRSF17
t(5;17)(q33;p13) RABEP1/PDGFRB
t(5;9)(q33;q22) ITK/SYK
t(6;11)(q21;q23) KMT2A/FOXO3
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
t(6;12)(q15;p13)/NHL (AML, T-CLD; - ; rare)
t(6;14)(p21;q32) IGH/CCND3
t(6;14)(p25.3;q11.2) TRA/IRF4
t(6;14)(q25-27;q32) BCL11B/?
t(6;20)(q15;q11.2) BACH2/BCL2L1
t(6;7)(p25.3;q32.3) DUSP22/FRA7H
t(6;8)(q27;p12) FGFR1OP/FGFR1
del(6q) abnormalities in lymphoid malignancies
del(6q) abnormalities in lymphoid malignancies
del(6q) in Multiple Myeloma
Lymphomatoid papulosis (LyP) with 6p25.3 rearrangement DUSP22 and IRF4/
t(10;14)(q24;q11) HOX11/TRD
t(7;10)(q34;q24) TRB/HOX11
inv(14)(q11q32.1) TRA-TRD/TCL1A
inv(14)(q11q32.1) TRA-TRD/TCL1A
t(14;14)(q11;q32.1) TRA-TRD/TCL1A
t(14;14)(q11;q32.1) TRA-TRD/TCL1A
t(7;14)(q35;q32.1) TRB/TCL1A
t(7;14)(q35;q32.1) TRB/TCL1A
t(7;14)(q21;q32) ERVW-1/IgH
inv(7)(p15q34) TRB/HOXA10
t(7;7)(p15;q34) TRB/HOXA10
t(7;8)(p12;q24) /MYC
del(7q) in non-Hodgkin's lymphoma (NHL)
ins(12;8)(p11;p12p22) FGFR1OP2/FGFR1
t(8;12)(p12;p11) FGFR1OP2/FGFR1
t(8;12)(q24;p12) LRMP/MYC
t(8;12)(q24;q22) BTG1/MYC
t(8;13)(p11;q12) ZMYM2/FGFR1
t(8;14)(q24;q11) TRA/MYC
t(8;17)(q24;q22) ???BCL3/MYC
t(8;9)(p22;p24) PCM1/JAK2
t(8;9)(q24;p13) ?/MYC
+8 or trisomy 8
+8 or trisomy 8
dic(9;12)(p13;p13) PAX5/ETV6
t(9;14)(p13;q32) PAX5/IGH
t(9;14)(p13;q32) PAX5/IGH
t(9;17)(q34;q23) ( NHL; - ; rare)
Adult T-cell leukemia/lymphoma (ATLL)
Anaplastic large cell lymphoma, ALK-negative
ALK -positive diffuse large B-cell lymphoma
Alpha heavy chain disease
Anaplastic B-cell lymphoma
Anaplastic large cell lymphoma (ALCL)
Angioimmunoblastic T-cell lymphoma
Classification of B-cell chronic lymphoproliferative disorders (CLD)
Classification of B-cell non-Hodgkin lymphomas (NHL)
B-cell prolymphocytic leukemia (B-PLL)
Burkitt's lymphoma (BL)
Centroblastic lymphoma
Classical Hodgkin lymphoma
Chronic lymphocytic leukaemia (CLL)
Cutaneous T-cell lymphomas
Disseminated Juvenile Xanthogranuloma
Diffuse large cell lymphoma
Fibrogenesis imperfecta ossium
Follicular lymphoma (FL)
Gamma heavy chain disease
Hairy Cell Leukemia (HCL) and Hairy Cell Leukemia Variant (HCL-V)
Hepatosplenic T-cell lymphoma (HSTCL)
Hodgkin lymphoma
Immunoblastic lymphoma
Infectious mononucleosis-like PTLD
B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma
Intestinal T-cell lymphoma
Lymphoplasmacytic lymphoma
Lymphocyte depletion classical Hodgkin lymphoma
Lymphoepithelioid lymphoma
HIV-associated lymphomas
Lymphocyte-rich classical Hodgkin lymphoma
Mucosa-associated lymphoid tissue (MALT) lymphoma
Mantle cell lymphoma (incomplete)
Marginal Zone B-cell lymphoma
Mixed cellularity classical Hodgkin lymphoma (MCcHL)
Multiple myeloma
Mu heavy chain disease
Mycosis fungoides/Sezary's syndrome
Nasal T cell lymphoma
NK cell neoplasias
Nodular lymphocyte-predominant Hodgkin lymphoma
Nodular sclerosis classical Hodgkin lymphoma (NScHL)
Pediatric-type Follicular Lymphoma
Peripheral T-cell lymphoma not otherwise specified (PTCL-NOS)
Plasmablastic lymphoma (PBL)
Plasma cell leukemia (PCL)
Primary cutaneous CD30+ anaplastic large cell lymphoma
Small lymphocytic lymphoma
Splenic lymphoma with villous lymphocytes (SLVL)
Classification of T-Cell disorders
Classification of T-Cell disorders
T-cell/histiocyte rich large B-cell lymphoma
T-cell large granular lymphocyte leukaemia
T-cell prolymphocytic leukemia (T-PLL)
Histiocyte-rich B-cell lymphoma
Waldenstrom's macroglobulinemia (WM)
t(X;11)(q21;q23) BRWD3/ARHGAP20
t(X;14)(p11.4;q32.33) IGH/GPR34
t(X;14)(q28;q11.2) TRA-TRD/MTCP1
t(X;7)(q28;q34) TRB/MTCP1
t(X;2)(q11;p23) MSN/ALK

Phylum and Thesaurus of Hematological malignancies (full table)

detailed descriptionICD-O3 code
Myeloproliferative neoplasms 
Chronic myelogenous leukaemia, BCR-ABL1 positive9975/3
Chronic neutrophilic leukaemia9963/3
Polycythaemia vera9950/3
Primary myelofibrosis9961/3
Essential thrombocythaemia9962/3
Chronic eosinophilic leukaemia, NOS9964/3
Cutaneous mastocytosis9740/3
Systemic mastocytosis9741/3
Mast cell leukaemia9742/3
Mast cell sarcoma9740/3
Extracutaneous mastocytoma9740/1
Myeloproliferative neoplasm, unclassifiable9975/3
Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB or FGFR1 
Myeloid and lymphoid neoplasms with PDGFRA rearrangement9965/3
Myeloid and lymphoid neoplasms with PDGFRB rearrangement9966/3
Myeloid and lymphoid neoplasms with FGFR1 rearrangement9967/3
Myelodysplastic/myeloproliferative neoplasms 
Chronic myelomonocytic leukaemia9945/3
Atypical chronic myeloid leukaemia, BCR-ABL1 negative9876/3
Juvenile myelomonocytic leukaemia9946/3
Myelodysplastic/myeloproliferative neoplasm, unclassifiable9975/3
Refractory anemia with ring sideroblasts associated with marked thrombocytosis9982/3
Myelodysplastic syndromes 
Refractory anemia9980/3
Refractory neutropenia9991/3
Refractory thrombocytopemia9992/3
Refractory anaemia with ring sideroblasts9982/3
Refractory cytopenia with multilineage dysplasia9985/3
Refractory anaemia with excess blasts9983/3
Myelodysplastic syndrome with isolated del(5q)9986/3
Myelodysplastic syndrome, unclassifiable9989/3
Childhood myelodysplastic syndromeNS
Refractory cytopenia of childhood9985/3
Acute myeloid leukaemia (AML) and related precursor neoplasms 
AML with t(8;21)(q22;q22); RUNX1-RUNX1T19896/3
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH119871/3
Acute promyelocytic leukaemia with t(15;17)(q22;q12); PML-RARA9866/3
AML with t(9;11)(p22;q23); MLLT3-MLL9897/3
AML with t(6;9)(p23;q34); DEK-NUP214v AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI19865/3
AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2);RPN1-EVI19869/3
AML (megakaryoblastic) with t(1;22)(p13;q13);RBM15-MKL19911/3
AML with mutated NPM19861/3
AML with mutated CEBPA9861/3
AML with myelodysplasia-related changes9895/3
Therapy-related myeloid neoplasms9920/3
Acute myeloid leukaemia, NOS9861/3
AML with minimal differentiation9872/3
AML without maturation9873/3
AML with maturation9874/3
Acute myelomonocytic leukaemia9867/3
Acute monoblastic and monocytic leukaemia9891/3
Acute erythroid leukaemia9840/3
Acute megakaryoblastic leukaemia9910/3
Acute basophilic leukaemia9870/3
Acute panmyelosis with myelofibrosis9931/3
Myeloid sarcoma9872/3
Transient abnormal myelopoiesis9898/1
Myeloid leukaemia associated with Down syndrome9898/3
Blastic plasmacytoid dendritic cell neoplasm9727/3
Acute leukaemias of ambiguous lineage 
Acute undifferentiated leukaemia9801/3
Mixed phenotype acute leukaemia with t(9;22)(q34;q11.2); BCR-ABL19806/3
Mixed phenotype acute leukaemia with t(v;11q23); MLL rearranged9807/3
Mixed phenotype acute leukaemia, B/myeloid, NOS 1529808/3
Mixed phenotype acute leukaemia, T/myeloid, NOS 1539809/3
Mixed phenotype acute leukaemia, NOS - rare typesNS
Other ambiguous lineage leukaemiasNS
Natural killer (NK)-cell lymphoblastic leukaemia/lymphomaNS
Precursor lymphoid neoplasms 
B lymphoblastic leukaemia/lymphoma, NOS9811/3
B lymphoblastic leukaemia/lymphoma with t(9:22)(q34;q11.2); BCR-ABL19812/3
B lymphoblastic leukaemia/lymphoma with t(v;11q23); MLL rearranged9813/3
B lymphoblastic leukaemia/lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)9814/3
B lymphoblastic leukaemia/lymphoma with hyperdiploidy9815/3
B lymphoblastic leukaemia/lymphoma with hypodiploidy (Hypodiploid ALL)9816/3
B lymphoblastic leukaemia/lymphoma with t(5;14)(q31;q32); IL3-IGH9817/3
B lymphoblastic leukaemia/lymphoma with t(1;19) (q23;p13.3); E2A-PBX1(TCF3-PBX1)9818/3
T lymphoblastic leukaemia/lymphoma9837/3
Mature B-cell neoplasms 
Chronic lymphocytic leukaemia /small lymphocytic lymphoma9823/3
B-cell prolymphocytic leukaemia9833/3
Splenic marginal zone lymphoma9689/3
Hairy cell leukaemia9940/3
Splenic B-cell lymphoma/leukaemia, unclassifiable9591/3
Splenic diffuse red pulp small B-cell lymphoma9591/3
Hairy cell leukaemia-variant9591/3
Lymphoplasmacytic lymphoma9671/3
Waldenstrom macroglobulinemia9761/3
Heavy chain diseases9762/3
Gamma heavy chain disease9762/3
Mu heavy chain disease9762/3
Alpha heavy chain disease9762/3
Plasma cell neoplasms-
Monoclonal gammopathy of undetermined significance (MGUS)9765/1
Plasma cell myeloma / Multiple myeloma9732/3
Solitary plasmacytoma of bone9731/3
Extraosseous plasmacytoma9734/3
Monoclonal immunoglobulin deposition diseases-
Extranodal marginal zone lymphoma of mucosa- associated lymphoid tissue (MALT lymphoma)9699/3
Nodal marginal zone lymphoma9699/3
Paediatric nodal marginal zone lymphoma9699/3
Follicular lymphoma9690/3
Paediatric follicular lymphoma9690/3
Primary cutaneous follicle centre lymphoma9597/3
Mantle cell lymphoma9673/3
Diffuse large B-cell lymphoma (DLBCL), NOS9680/3
T cell/histiocyte-rich large B-cell lymphoma9688/3
Primary DLBCL of the CNS9680/3
Primary cutaneous DLBCL, leg type9680/3
EBV positive DLBCL of the elderly9680/3
DLBCL associated with chronic inflammation9680/3
Lymphomatoid granulomatosis9766/3
Primary mediastinal (thymic) large B-cell lymphoma9679/3
Intravascular large B-cell lymphoma9712/3
ALK positive large B-cell lymphoma9737/3
Plasmablastic lymphoma9735/3
Large B-cell lymphoma arising in HHV8-associated multicentric Castleman disease9738/3
Primary effusion lymphoma9678/3
Burkitt lymphoma9687/3
B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and Burkitt lymphoma9680/3
B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and classical Hodgkin lymphoma9596/3
Mature T- and NK-cell neoplasms 
T-cell prolymphocytic leukaemia9834/3
T-cell large granular lymphocytic leukaemia9831/3
Chronic lymphoproliferative disorder of NK cells9831/3
Aggressive NK cell leukaemia9948/3
Systemic EBV+ T-cell lymphoproliferative disease of childhood9724/3
Hydroa vacciniforme-like lymphoma9725/3
Adult T-cell leukaemia/lymphoma9827/3
Extranodal NK/T-cell lymphoma, nasal type9719/3
Enteropathy-associated T-cell lymphoma9717/3
Hepatosplenic T-cell lymphoma9716/3
Subcutaneous panniculitis-like T-cell lymphoma9708/3
Mycosis fungoides9700/3
Sèzary syndrome9701/3
Lymphomatoid papulosis9718/1
Primary cutaneous anaplasic large cell lymphoma9718/3
Primary cutaneous peripheral T-cell lymphomas, rare subtypes
Primary cutaneous gamma-delta T-cell lymphoma9726/3
Primary cutaneous CD8 positive aggressive epidermotropic cytotoxic T-cell lymphoma9709/3
Primary cutaneous CD4 positive small/medium T-cell lymphoma9709/3
Peripheral T-cell lymphoma, NOS9702/3
Angioimmunoblastic T-cell lymphoma9705/3
Anaplastic large cell lymphoma, ALK positive9714/3
Anaplastic large cell lymphoma, ALK negative9702/3
Hodgkin lymphoma 
Nodular lymphocyte predominant Hodgkin lymphoma9659/3
Classical Hodgkin lymphoma9650/3
Nodular sclerosis classical Hodgkin lymphoma9663/3
Mixed cellularity classical Hodgkin lymphoma9652/3
Lymphocyte-rich classical Hodgkin lymphoma9651/3
Lymphocyte-depleted classical Hodgkin lymphoma9653/3
Immunodeficiency-associated lymphoproliferative disorders 
Lymphoproliferative diseases associated with primary immune disordersNS
Lymphomas associated with HIV infectionNS
Plasmatic hyperplasia9971/1
Infectious mononucleosis-like PTLD9971/1
Polymorphic PTLD9971/3
Monomorphic PTLD (B- and T/NK-cell types, classified according to the leukemia/lymphomato which they correspond)-
Classical Hodgkin lymphoma type PTLD-
Histiocytic and dendritic cell neoplasms 
Histiocytic sarcoma9755/3
Langerhans cell histiocytosis9751/3
Langerhans cell sarcoma9756/3
Interdigitating dendritic cell sarcoma9757/3
Follicular dendritic cell sarcoma9758/3
Intermediate dendritic cell tumour9759/3
Disseminated juvenile xanthogranulomaN

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